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Nature Genetics
|
May 1, 1996
Localization of the gene for Cowden disease to chromosome 10q22-23
M R Nelen, G W Padberg, E A Peeters, et al.
Nature Genetics
|
December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
Nature Communications
|
June 13, 2015
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, et al.
Human Molecular Genetics
|
September 27, 2014
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Richard J L F Lemmers, Jelle J Goeman, Patrick J van der Vliet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Isabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
Annals of Surgery
|
July 3, 2015
Pancreatogastrostomy Versus Pancreatojejunostomy for RECOnstruction After PANCreatoduodenectomy (RECOPANC, DRKS 00000767): Perioperative and Long-term Results of a Multicenter Randomized Controlled Trial
Tobias Keck, U F Wellner, M Bahra, et al.
Nature Genetics
|
November 13, 2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, et al.
Nature Genetics
|
June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
Page
of 23
Search research articles
Search
Showing results (221-230 of 228) with videos related to
Sort By:
Page
of 23
You have reached the last page of results.
This site can display upto 228 results.
Nature Genetics
|
May 1, 1996
Localization of the gene for Cowden disease to chromosome 10q22-23
M R Nelen, G W Padberg, E A Peeters, et al.
Nature Genetics
|
December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
Nature Communications
|
June 13, 2015
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, et al.
Human Molecular Genetics
|
September 27, 2014
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Richard J L F Lemmers, Jelle J Goeman, Patrick J van der Vliet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Isabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
Annals of Surgery
|
July 3, 2015
Pancreatogastrostomy Versus Pancreatojejunostomy for RECOnstruction After PANCreatoduodenectomy (RECOPANC, DRKS 00000767): Perioperative and Long-term Results of a Multicenter Randomized Controlled Trial
Tobias Keck, U F Wellner, M Bahra, et al.
Nature Genetics
|
November 13, 2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, et al.
Nature Genetics
|
June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
Page
of 23